igf1rb

Ensembl ID:
ENSDARG00000034434
ZFIN ID:
ZDB-GENE-020503-2
Description:
insulin-like growth factor 1b receptor [Source:RefSeq peptide;Acc:NP_694501]
Human Orthologue:
IGF1R
Human Description:
insulin-like growth factor 1 receptor [Source:HGNC Symbol;Acc:5465]
Mouse Orthologue:
Igf1r
Mouse Description:
insulin-like growth factor I receptor Gene [Source:MGI Symbol;Acc:MGI:96433]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa20878 Nonsense Mutation detected in F1 DNA During 2014
sa3628 Essential Splice Site Mutation detected in F1 DNA During 2014
sa11056 Nonsense Available for shipment Available now
sa5760 Nonsense F2 line generated During 2014
sa2385 Nonsense F2 line generated During 2014

Mutation Details

Allele Name:
sa20878
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046542 Nonsense 477 1380 7 21
Genomic Location:
Chromosome 7 (position 16325861)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAAATGTTTCATTTTGTACTTTCTGTTTTTCTTAGGTGGGACTAAAATCT[T/A]AAAGTTTACTTCGAATAACACGAGGAGTAATCAAATCAAGCTGATGTGGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3628
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046542 Essential Splice Site 916 1380 13 21
Genomic Location:
Chromosome 7 (position 16349869)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAACGGATCCTGGACAGAGCCCATAGCTTTCTCCGTGCATCAGCTGGAAC[G/A]TAGGTTTACCGCCACCTTCAAAACATTGCAATTTGTAATCACGTTATTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11056
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046542 Nonsense 995 1380 16 21
Genomic Location:
Chromosome 7 (position 16351351)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATGAATGGGAAGTGGAGCGGGAGAAGATCACGATGTGCCGAGAGCTTGGA[C/T]AGGGGTCRTTTGGTATGGTGTATGAGGGCATCGCCAAAGGTGTCGTTAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5760
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046542 Nonsense 1357 1380 21 21
ENSDART00000046542 Nonsense 1357 1380 21 21
Genomic Location:
Chromosome 7 (position 16371607)
KASP Assay ID:
554-3392.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAGCGGCCAACGGGCCCTCCATGGTCCTGAGGGGGCCKTTTGAGGAGGGT[C/T]AGCCTTACGCTCATATGAACGGGGGCCGGAAGAACGAGCGTGCCTTGCCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2385
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046542 Nonsense 1357 1380 21 21
ENSDART00000046542 Nonsense 1357 1380 21 21
Genomic Location:
Chromosome 7 (position 16371607)
KASP Assay ID:
554-3392.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAGCGGCCAACGGGCCCTCCATGGTCCTGAGGGGGCCKTTTGAGGAGGGT[C/T]AGCCTTACGCTCATATGAACGGGGGCCGGAAGAACGAGCGTGCCTTGCCT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Arthritis (juvenile idiopathic): Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. (View Study)
  • Height: Hundreds of variants clustered in genomic loci and biological pathways affect human height. (View Study)
  • Urate levels: Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/5dwyb8bm